Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62918065C>T , CM000673.2:g.62918065C>T | GRCh38 |
| NC_000011.9:g.62685537C>T , CM000673.1:g.62685537C>T | GRCh37 |
| NC_000011.8:g.62442113C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306960.4:c.-79+3153G>A MANE Select | ENSP00000306490.3:n.-79+3153G>A | |
| ENST00000306960.3:c.-79+3153G>A | ENSP00000306490.3:n.-79+3153G>A | |
| ENST00000543973.1:c.-79+2608G>A | ENSP00000441188.1:n.-79+2608G>A | |
| NM_000738.2:c.-79+3153G>A | NP_000729.2:n.-79+3153G>A | |
| XM_011544742.1:c.-79+3773G>A | XP_011543044.1:n.-79+3773G>A | |
| XM_011544742.2:c.-79+3773G>A | XP_011543044.1:n.-79+3773G>A | |
| XR_002957251.1:n.533C>T | ||
| NM_000738.3:c.-79+3153G>A MANE Select | NP_000729.2:n.-79+3153G>A |